A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612320



Internal ID16399729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131446702..131525764hg38UCSC Ensembl
Innerchr8:132458949..132538011hg19UCSC Ensembl
Innerchr8:132528131..132607193hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3879063
hg1979063
hg1879063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121515
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612320
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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